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四肢短小畸形:极为罕见的病例。

Tetra-phocomelia: a rarest of rare case.

作者信息

Shukla Anil Kumar, Sanjay S C, Krishna L, Krishnappa N

机构信息

Professor, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences , Bangalore, India .

Associate Professor, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences , Bangalore, India .

出版信息

J Clin Diagn Res. 2015 Mar;9(3):TD03-4. doi: 10.7860/JCDR/2015/11630.5664. Epub 2015 Mar 1.

Abstract

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.

摘要

我们报告了一例通过产前超声检查评估的极为罕见的四肢短小畸形病例。这种病症在每10万例活产中出现0.62例。在妊娠18周时进行了超声检查以评估胎儿,终止妊娠后对大体标本进行了评估,并进行了婴儿X线摄片以确认检查结果。该病例表现出典型的四肢短小畸形,四肢如同海豹的鳍状肢。我们的发现使其极为罕见,因为迄今为止仅有少数病例被报道。

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